Cystic Fibrosis is a disease that is inherited or passed down from parents through gene mutation. It's effects are a mucus builds up in specific organs in the body, mainly the lungs and pancreas. Patients with Cystic Fibrosis have unusually thick, sticky mucus. Mucus clogs in respiratory tract and/or digestive tract, pancreas and causes infections.
The Pancreas is an organ that produces insulin, a hormone that helps control blood sugar levels, and enzymes that help digest food. Mucus blocks the ducts of the pancreas, preventing these enzymes from reaching the intestines to aid digestion.Some babies with cystic fibrosis have meconium ileus, a blockage of the intestine that occurs shortly after birth.
People with Cystic Fibrosis must carefully monitor body functions, as basic as breathing. CF is the most prevalent life-threatening disorder for Caucasian Americans.
Cystic Fibrosis is also called "mucoviscidosis" or "cystic fibrosis of the pancreas."
How do you get Cystic Fibrosis?
Cystic fibrosis is passed down from parent to child. It effects the organs in your body. For example, your lungs and digestive system. In these two cases, Cystic Fibrosis causes mucus to clog and thus making it hard for a person to breath or digest food.
People with this disease have a shorter life span and usually live to the age of 31 years old. This disease happens because of a "bad" gene, which is called the cystic fibrosis transmembrate conductance regulator, long name i know.
This disease in inherited when the cells provide two defective chromosome 7s (the gene is at the middle of chromosome 7), aka CF gene, one from the mother and one from the father. However, if you only have one gene,you are considered a carrier and you don't have the symptoms. This disorder has no harm to those who have one normal copy and one defective copy of the gene.
When both parents are carriers, it is expected that one out of four of their offspring will have Cystic Fibrosis.
What type of mutation causes Cystic Fibrosis?
Cystic Fibrosis is caused by a type of point mutation--nucleotide deletion. As illustrated in the diagram above, nucleotides C, T and T gets deleted which allows frame shift to occur. After a frame shift, it no longer code for the original Iso-Iso-Phen-Gly-Val. Instead it codes for Iso-Iso-Gly-Val. This change of amino acid causes wrong polypeptide to form, resulting in Cystic Fibrosis.
Who gets Cystic Fibrosis?
In the United states, there is currently about 30,000 people who have cystic fibrosis. In addition to this, approximately 1 in every 30 Americans are carriers, 10 million more. This disease is common in Caucasians, all races can be affected. This disorder is especially common for people of northwestern European ancestry. It is estimated to occur in 1 per 2,000 lives in northern hemisphere, as opposed to people of African ancestry--about 1 per 17,000 live births-- and people of Asian ancestry.
When and What can you expect?
Unfortunately, 40% of the people who are diagnosed with Cystic Fibrosis are over the age of 18 and for those people the life expectancy is only 35 years of age. Although that might not be a fair life span, the amount of years people have survived with this disease has dramatically increased over the years. If a person where to die from Cystic Fibrosis, you would expect the reason to be because of lung complications.
The most common complications are chronic respiratory infections.
Pneumonia, recurrent
Pneumothorax
Coughing up blood
Chronic respiratory failure
Cor pulmonale
Liver disease
Diabetes
Osteoporosis and arthritis
What does Cystic Fibrosis do?
Cystic Fibrosis affects the mucus-secreting and sweat glands of the body. The disorder causes the body to produce protein that lacks an amino acid called phenylalanine. This lack of amino acids affect the movement of salt and water across the lung and gut lining, and dries the mucus that coats the surface. With the lack of water, mucus turns very concentrated and sticky, and eventually accumulates in lung . This essentially makes breating difficult, and results in chronic lung infections, chronic cough, and progressive loss of lung function which leads to slow death of the patient.
Accumulation of thick mucus in digestive system causes food/nutrition to be not digested properly. Thick mucus secretions interfere with the passage of digestive enzymes. This results in bulky, greasy, foul smelling excrements, and causes the patient to suffer from malnutrition as well as flawed digestion. In addition to the above, the production of the abnormally thick mucus leads to the blockage of pancreatic ducts (often causing Pancreatitis), as well as respiratory infection.
What is Cystic Fibrosis?
Cystic Fibrosis is a disease that is inherited or passed down from parents through gene mutation. It's effects are a mucus builds up in specific organs in the body, mainly the lungs and pancreas. Patients with Cystic Fibrosis have unusually thick, sticky mucus. Mucus clogs in respiratory tract and/or digestive tract, pancreas and causes infections.
The Pancreas is an organ that produces insulin, a hormone that helps control blood sugar levels, and enzymes that help digest food. Mucus blocks the ducts of the pancreas, preventing these enzymes from reaching the intestines to aid digestion.Some babies with cystic fibrosis have meconium ileus, a blockage of the intestine that occurs shortly after birth.
People with Cystic Fibrosis must carefully monitor body functions, as basic as breathing. CF is the most prevalent life-threatening disorder for Caucasian Americans.
Cystic Fibrosis is also called "mucoviscidosis" or "cystic fibrosis of the pancreas."
How do you get Cystic Fibrosis?
Cystic fibrosis is passed down from parent to child. It effects the organs in your body. For example, your lungs and digestive system. In these two cases, Cystic Fibrosis causes mucus to clog and thus making it hard for a person to breath or digest food.
People with this disease have a shorter life span and usually live to the age of 31 years old. This disease happens because of a "bad" gene, which is called the cystic fibrosis transmembrate conductance regulator, long name i know.
This disease in inherited when the cells provide two defective chromosome 7s (the gene is at the middle of chromosome 7), aka CF gene, one from the mother and one from the father. However, if you only have one gene,you are considered a carrier and you don't have the symptoms. This disorder has no harm to those who have one normal copy and one defective copy of the gene.
When both parents are carriers, it is expected that one out of four of their offspring will have Cystic Fibrosis.
What type of mutation causes Cystic Fibrosis?
Cystic Fibrosis is caused by a type of point mutation--nucleotide deletion. As illustrated in the diagram above, nucleotides C, T and T gets deleted which allows frame shift to occur. After a frame shift, it no longer code for the original Iso-Iso-Phen-Gly-Val. Instead it codes for Iso-Iso-Gly-Val. This change of amino acid causes wrong polypeptide to form, resulting in Cystic Fibrosis.
Who gets Cystic Fibrosis?
In the United states, there is currently about 30,000 people who have cystic fibrosis. In addition to this, approximately 1 in every 30 Americans are carriers, 10 million more. This disease is common in Caucasians, all races can be affected. This disorder is especially common for people of northwestern European ancestry. It is estimated to occur in 1 per 2,000 lives in northern hemisphere, as opposed to people of African ancestry--about 1 per 17,000 live births-- and people of Asian ancestry.
When and What can you expect?
Unfortunately, 40% of the people who are diagnosed with Cystic Fibrosis are over the age of 18 and for those people the life expectancy is only 35 years of age. Although that might not be a fair life span, the amount of years people have survived with this disease has dramatically increased over the years. If a person where to die from Cystic Fibrosis, you would expect the reason to be because of lung complications.
The most common complications are chronic respiratory infections.
What does Cystic Fibrosis do?
Cystic Fibrosis affects the mucus-secreting and sweat glands of the body. The disorder causes the body to produce protein that lacks an amino acid called phenylalanine. This lack of amino acids affect the movement of salt and water across the lung and gut lining, and dries the mucus that coats the surface. With the lack of water, mucus turns very concentrated and sticky, and eventually accumulates in lung . This essentially makes breating difficult, and results in chronic lung infections, chronic cough, and progressive loss of lung function which leads to slow death of the patient.
Accumulation of thick mucus in digestive system causes food/nutrition to be not digested properly. Thick mucus secretions interfere with the passage of digestive enzymes. This results in bulky, greasy, foul smelling excrements, and causes the patient to suffer from malnutrition as well as flawed digestion. In addition to the above, the production of the abnormally thick mucus leads to the blockage of pancreatic ducts (often causing Pancreatitis), as well as respiratory infection.
Sources
Genetic Home Reference: What is Cystic Fibrosis
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